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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SP7
(E333fs +1 more)
Deletion
(frameshift variant)
Osteogenesis imperfecta type 12
GPathogenic
SP7
(R316C +1 more)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 12
GPathogenic